IgG4-related disease-rare but you should not forget it.

Immunoglobulin G4-related disease is a systemic immune-mediated disease with insidious evolution characterized by fibroinflammatory lesions over virtually any organ system. Despite the remarkable progression of knowledge, its etiology remains undefined. Due to its relapse-remitting pattern, it could accumulate irreversible damage, increasing comorbidities and mortality. This paper emphasizes key concepts for diagnosing and treating patients with this condition.

Effector CD4+ T cell subsets in Takayasu arteritis - Differences between the peripheral blood and the aorta.

Takayasu arteritis (TAK) is a granulomatous vasculitis that affects large arteries. T cells are important in TAK pathophysiology as these cells orchestrate granulomatous infiltration in arteries. This study aims to evaluate effector CD4+ T cells in the peripheral blood and the aortic wall of TAK patients and to analyze associations with disease activity and therapy. We performed a longitudinal study including 30 TAK patients and 30 controls. CD3+ T cells, CD3+CD4- T cells, CD4+ T cells, and Th1, Th2, and Th17 cells were evaluated in peripheral blood by flow cytometry, and the expression of CD4, CD8, Tbet, GATA-3, and RORγT was analyzed in the aorta of 6 patients by immunohistochemistry. TAK patients presented lower CD3+ T cells and CD4+ T cells (p=0.031 and p=0.039, respectively) than controls. Patients with active disease and those in remission had higher proportions of Th17 cells than controls (p=0.016 and p=0.004, respectively). Therapy for TAK did not result in significant differences concerning CD4+ effector T cell subpopulations. Disease duration correlated with the number and percentage of Th2 cells (rho=-0.610 and rho=-0.463, respectively) and with Th17 cells (rho=-0.365 and rho=-0.568). In the aorta, the expression of CD8 was higher than CD4, whereas GATA-3, Tbet and RORγT were expressed in this order of frequency. In conclusion, TAK patients present an increased Th17 response in the peripheral blood regardless of disease activity, whereas in the aortic tissue CD8 cells and the Th2 response were predominant.

Cerebrovascular disease in patients with antiphospholipid antibody syndrome: a transcranial Doppler and magnetic resonance imaging study.

Objective: Transcranial Doppler (TCD) and brain MRI may be useful in evaluating patients with APS, helping to stratify the risk of cerebrovascular ischaemic events in this population. This study aimed to assess the frequency of brain MRI abnormalities in patients with primary antiphospholipid syndrome, secondary antiphospholipid syndrome and SLE and correlate to TCD findings. Methods: The study, conducted over four years at two autoimmune disease referral centres, included 22 primary antiphospholipid syndrome patients, 24 secondary antiphospholipid syndrome patients, 27 SLE patients without APS and 21 healthy controls. All participants underwent TCD to assess cerebral haemodynamics, detect microembolic signals and evaluate right-to-left shunts, followed by brain MRI and magnetic resonance angiography. MRI scans were reviewed for acute microembolism, localized cortical infarctions, border infarctions, lacunar infarctions, ischaemic lesions, white matter hyperintensity, micro and macro haemorrhages and arterial stenosis ≥50% of the cervical carotid artery, by two neuroradiologists blinded to the clinical data. Results: Brain MRI findings were similar between the groups, except for lacunar infarction, more frequent in patients with secondary antiphospholipid syndrome (P = 0.022). Patients with intracranial stenosis detected by TCD had a higher frequency of territorial infarction (40% vs 7.5%, P = 0.02), lacunar (40% vs 11.3%, P = 0.075) and border zone infarcts (20% vs 1.9%, P = 0.034). Conclusions: Patients with intracranial stenosis presented a higher frequency of territorial, lacunar and border zone infarcts, suggesting that evaluating the intracranial vasculature should not be neglected in patients with APS and stroke.

Unveiling the clinical spectrum of relapsing polychondritis: insights into its pathogenesis, novel monogenic causes, and therapeutic strategies.

Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet's syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.

Evaluation of common femoral vein thickness as a diagnostic tool for Behçet's disease in a non-endemic area.

OBJECTIVES: To evaluate common femoral vein thickness (CFVT) as a diagnostic tool in Brazilian patients with Behçet's disease (BD) and to analyse associations between increased CFVT and disease features. METHODS: A cross-sectional study was performed including 100 BD patients and 100 controls. The CFVT and the diameters of great saphenous vein (GSV), and small saphenous vein (SSV) were measured by Doppler ultrasound. RESULTS: BD patients had higher right CFVT [0.600mm (0.500-0.700) vs. 0.525mm (0.450-0.637); p=0.012] and left CFVT [0.550mm (0.450-0.650) vs. 0.500mm (0.450-0.550); p=0.004] compared to controls. Vascular involvement of BD and previous deep venous thrombosis were associated with increased CFVT (p<0.05). The number of vascular events correlated with right and left CFVT (Rho = 0.475 p=0.030 and Rho = 0.429 p=0.052, respectively). The 0.575mm cut-off point of right and left CFVT had area under the curve (AUC) of 0.602; 95% confidence interval (95% CI): 0.524-0.680 and AUC: 0.615; 95% CI: 0.537-0.693, respectively. The right and left CFVT had a sensitivity for BD diagnosis of 52% and 43%, and a specificity of 64% and 77%, respectively. No significant differences were found between BD patients and controls regarding the GSV and SSV diameters in both legs (p>0.05). CONCLUSIONS: In this study, CFVT measurement was not shown to be a reliable diagnostic test for BD. CFVT was increased in BD patients presenting vascular involvement and correlated with the number of previous events.

Unveiling the clinical spectrum of relapsing polychondritis: insights into its pathogenesis, novel monogenic causes, and therapeutic strategies

Abstract Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet's syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.

Does decision tree analysis predict oral ulcer activity-related factors in patients with Behçet's syndrome?

OBJECTIVES: The study aimed to identify the interactions among treatment protocols and oral ulcer activity related factors in patients with Behçet's syndrome (BS) using the Classification and Regression Tree (CART) algorithm. METHODS: In this cross-sectional study, 979 patients with BS were included from16 centres in Turkey, Jordan, Brazil and the United Kingdom. In the CART algorithm, activities of oral ulcer (active vs. inactive), genital ulcer (active vs. inactive), cutaneous involvement (active vs. inactive), musculoskeletal involvement (active vs. inactive), gender (male vs. female), disease severity (mucocutaneous and musculoskeletal involvement vs. major organ involvement), smoking habits (current smoker vs. non-smoker), tooth brushing habits (irregular vs. regular), were input variables. The treatment protocols regarding immunosuppressive (IS) or non-IS medications were the target variable used to split from parent nodes to purer child nodes in the study. RESULTS: In mucocutaneous and musculoskeletal involvement (n=538), the ratio of IS use was higher in patients with irregular toothbrushing (ITB) habits (27.1%) than in patients with regular toothbrushing (RTB) habits (14.2%) in oral ulcer activity. In major organ involvement (n=441), male patients with ITB habits were more likely treated with IS medications compared to those with RTB habits (91.6% vs. 77.6%, respectively). CONCLUSIONS: Male BS patients on IS who have major organ involvement and oral ulcer activity with mucocutaneous and musculoskeletal involvement have irregular toothbrushing habits. Improved oral hygiene practices should be considered to be an integral part for implementing patient empowerment strategies for BS.

HLA Alleles in a Behçet Disease Multiethnic Population With and Without Ophthalmic Manifestations.

OBJECTIVE: The aim of this study was to analyze HLA alleles in patients with Behçet disease (BD) and their correlation with ophthalmic manifestations (OMs) in a multiethnic Brazilian population. METHODS: This case-control study compared 72 BD patients with or without OM who underwent a thorough ophthalmologic evaluation, including best-corrected visual acuity, bino-ophthalmoscopy, and HLA analysis, with 144 matched healthy controls. Fluorescein angiography was also performed in the patients with BD and OM. HLA class I (A, B, and C) and II (DRB1, DQB1, and DQA1) typing were performed using PCR-SSO. RESULTS: Of 72 patients with BD, 42 (58%) had OM. The HLA-B*51 and -A*26 alleles were more frequent in patients with BD than in controls (23.6% vs 14.6% and 12.5% vs 4.3%, respectively), but could not differentiate OM risk. The HLA alleles of BD patients that differentiated those with and without OM were HLA-B*15 (40.5% vs 20.7%; odds ratio [OR], 2.59; p = 0.0059), HLA-C*02 (33.3% vs 13.4%; OR, 3.20; p = 0.0024), and HLA-DQB1*03 (64.3% vs 45.7%, p = 0.017), whereas HLA-A*03 (0.0% vs 13.3%, p = 0.006) and HLA-DRB1*15 (4.8% vs 19.5%; OR, 0.21; p = 0.0121) were protective against OM. CONCLUSIONS: In this study of a Brazilian multiethnic BD population, alleles were similar between groups of BD patients with and without OM. We described HLA-B*15, -C*02, and -DQB1*03 as risk factors and -A*03 and -DRB1*15 as protective factors for OM in BD, which could function as biomarkers for predicting disease phenotypes.

Pan American League of Associations for Rheumatology Guidelines for the Treatment of Takayasu Arteritis.

OBJECTIVE: To develop the first evidence-based Pan American League of Associations for Rheumatology (PANLAR) guidelines for the treatment of Takayasu arteritis (TAK). METHODS: A panel of vasculitis experts developed a series of clinically meaningful questions addressing the treatment of TAK patients in the PICO (population/intervention/comparator/outcome) format. A systematic literature review was performed by a team of methodologists. The evidence quality was assessed according to the GRADE (Grading of Recommendations/Assessment/Development/Evaluation) methodology. The panel of vasculitis experts voted each PICO question and made recommendations, which required ≥70% agreement among the voting members. RESULTS: Eleven recommendations were developed. Oral glucocorticoids are conditionally recommended for newly diagnosed and relapsing TAK patients. The addition of nontargeted synthetic immunosuppressants (e.g., methotrexate, leflunomide, azathioprine, or mycophenolate mofetil) is recommended for patients with newly diagnosed or relapsing disease that is not organ- or life-threatening. For organ- or life-threatening disease, we conditionally recommend tumor necrosis factor inhibitors (e.g., infliximab or adalimumab) or tocilizumab with consideration for short courses of cyclophosphamide as an alternative in case of restricted access to biologics. For patients relapsing despite nontargeted synthetic immunosuppressants, we conditionally recommend to switch from one nontargeted synthetic immunosuppressant to another or to add tumor necrosis factor inhibitors or tocilizumab. We conditionally recommend low-dose aspirin for patients with involvement of cranial or coronary arteries to prevent ischemic complications. We strongly recommend performing surgical vascular interventions during periods of remission whenever possible. CONCLUSION: The first PANLAR treatment guidelines for TAK provide evidence-based guidance for the treatment of TAK patients in Latin American countries.

The Epidemiology of Takayasu Arteritis in Rio de Janeiro, Brazil: A Large Population-Based Study.

OBJECTIVE: Few population-based studies for Takayasu arteritis (TAK) have been performed, and Latin America prevalence/incidence data are unavailable. We aimed to understand TAK epidemiology in Rio de Janeiro City in 2020 (i.e., 6,747,815 inhabitants). METHODS: This was a cross-sectional fieldwork study where physicians who regularly followed TAK patients in public or private practices from Rio de Janeiro were invited to complete a REDCap survey. Patients should fulfill internationally accepted criteria for TAK and be living in the city. The 2020 prevalence was calculated as cases per 1,000,000 inhabitants (10 6 ). National government databases were analyzed for comparative prevalence assessment. The incidence rate was estimated using retrospective sections of cases diagnosed between 2010 and 2019; relative incidence risk was assessed by Poisson regression models with robust variance. RESULTS: Between May 2020 and May 2021, 114 patients were analyzed. Ninety-seven (85.1%) were female, and the most frequent races were White (44.7%), Mestizo (33.3%), and Black (16.7%). Takayasu arteritis 2020 prevalence was 16.9 cases/10 6 (95% confidence interval [CI], 14.1-20.3 cases/10 6 ); female patients and Black Brazilians had higher prevalence rates at 27.0 (95% CI, 22.2-33.3) and 25.1 cases/10 6 (95% CI, 16.1-39.3 cases/10 6 ), respectively. Government databases' analyses generated a lower prevalence (7.26 cases/10 6 ; 95% CI, 5.49-9.60 cases/10 6 ). The 2010-2019 mean incidence rate was 0.94 cases/10 6 per year (95% CI, 0.73-1.21 cases/10 6 ). Female patients had a higher risk than male patients of having TAK between 2010 and 2019 (relative risk, 2.70; 95% CI, 1.59-4.55; p < 0.0001). CONCLUSION: In the largest population-based fieldwork to date and the first Latin American study on TAK prevalence, Rio de Janeiro City in 2020 showed an intermediate prevalence between Europe and Asia. Female patients and Black Brazilians were more affected than the general population.

Accuracy of Doppler ultrasound in the diagnosis of giant cell arteritis: a systematic review and meta-analysis.

BACKGROUND: Giant cell arteritis (GCA) is the most common primary systemic vasculitis in people 50 years of age and over, and it is considered a medical emergency due to the potential risk of permanent visual loss. Color Doppler ultrasound (CDU) of the temporal arteries is a rapid, noninvasive method to diagnose GCA. This study aims to determine the diagnostic accuracy of the halo sign in temporal arteries by CDU in people with suspected GCA. METHODS: The systematic literature review included the search for publications in the following electronic databases: PubMed, Embase, CENTRAL, LILACS, WHO ICTRP, ClinicalTrials.gov, gray literature up to December 2022, and no date or language restrictions were applied. We analyzed studies including patients over 50 years of age with suspected GCA evaluating CDU of temporal arteries as a diagnostic tool against clinical diagnosis as a standard reference. Paper titles and abstracts were selected by two investigators independently for all available records. The quality of the studies was assessed using the Quality of Diagnostic Accuracy Studies tool (QUADAS-2) and the R software (version 4.2.1) was used for data analysis. The protocol of this review is registered with PROSPERO (CRD42016033079). RESULTS: Twenty-two studies including 2893 participants with suspected GCA who underwent temporal artery CDU were evaluated. The primary analysis results showed a sensitivity of 0.76 [95% confidence interval (95 CI) 0.69-0.81] and specificity of 0.93 (95 CI 0.89-0.95) when the halo sign was compared to clinical diagnosis. The sensitivity value of 0.84 (95 CI 0.72-0.92) and specificity of 0.95 (95 CI 0.88-0.98) were found in five studies involving 1037 participants that analyzed the halo sign and temporal artery compression sign. A sensitivity of 0.86 (95 CI 0.78-0.91) and specificity of 0.95 (95 CI 0.89-0.98) were found in four studies with 603 participants where the halo sign was evaluated CDU on temporal and axillary arteries. CONCLUSION: The detection of the halo sign by CDU of temporal arteries has good accuracy for the diagnosis of cranial GCA. The compression sign in temporal arteries and the addition of axillary arteries assessment improves the diagnostic performance of CDU for GCA. TRIAL REGISTRATION: PROSPERO CRD42016046860.

Pan American League of Associations for Rheumatology Guidelines for the treatment of ANCA-associated vasculitis.

Considerable variability exists in the way health-care providers treat patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis in Latin America. The most frequently used treatments for ANCA-associated vasculitis are cyclophosphamide and prolonged glucocorticoid tapers; however, randomised controlled trials conducted over the past 30 years have led to the development of several evidence-based treatment alternatives for these patients. Latin America faces socioeconomic challenges that affect access to care, and the use of certain costly medications with proven efficacy ANCA-associated vasculitis is often restricted. For these reasons, the Pan American League of Associations for Rheumatology developed the first ANCA-associated vasculitis treatment guidelines tailored for Latin America. A panel of local vasculitis experts generated clinically meaningful questions related to the treatment of ANCA-associated vasculitis using the Population, Intervention, Comparator, and Outcome (PICO) format. Following the Grading of Recommendations Assessment, Development, and Evaluation methodology, a team of methodologists conducted a systematic literature review. The panel of vasculitis experts voted on each PICO question and made recommendations, which required at least 70% agreement among the voting members. 21 recommendations and two expert opinion statements for the treatment of ANCA-associated vasculitis were developed, considering the current evidence and the socioeconomic characteristics of the region. These recommendations include guidance for the use of glucocorticoids, non-glucocorticoid immunosuppressants, and plasma exchange.

Serum BDNF and cognitive dysfunction in SLE: findings from a cohort of 111 patients.

OBJECTIVE: The association between brain-derived neurotrophic factor (BDNF) and neuropsychiatric systemic lupus erythematosus (NPSLE) is controversial in the literature. Cognitive dysfunction (CD) is a common, underdiagnosed NPSLE manifestation, but its pathophysiology is unknown. Thus, we investigate serum BDNF as a potential biomarker of CD in a cohort of SLE patients. METHODS: We included 63 SLE patients, 48 NPSLE, and 57 age- and gender-matched controls (CON). All participants underwent neuropsychological assessment. Data on cardiovascular comorbidities, SLE disease activity index (SLEDAI), and Systemic Lupus International Collaborating Clinics damage index (SLICC-DI) were compiled. Multiple regression analyses evaluated predictors of serum BDNF levels. RESULTS: Serum BDNF levels were lower in SLE and NPSLE patients than in CON (SLE 800.4 ± 502.7 vs. NPSLE 779.7 ± 426.3 vs. CON 1,345.5 ng/mL ± 438.4; p < 0.001). In addition, hypertension (B: - 192.5, SE: 84.3, 95% CI: - 359.7 to - 25.3, p = 0.024) and SLICC-DI score (B: - 75.9, SE: 27.2, 95% CI: - 129.8 to - 22, p = 0.006) were predictors of serum BDNF levels in SLE. There was no relation between BDNF levels and CD. CONCLUSION: BDNF levels are lower in SLE patients than CON and inversely associated with hypertension and SLICC-DI scores. No association between BDNF levels and CD or NPSLE was observed in this cohort. These findings indicate that BDNF may be associated with overall burden in SLE rather than specific manifestations such as cognition impairment. Key Points • BDNF is associated with an overall burden in SLE rather than specific manifestations such as cognition dysfunction. • BDNF levels are reduced in patients with SLE, and higher SLICC-DI scores and hypertension are independent predictors of lower serum BDNF levels. • The cognitive dysfunction rate is elevated (46%) among Brazilian SLE patients.

The assessment of presenteeism and activity impairment in Behçet's syndrome and recurrent aphthous stomatitis: a multicentre study.

OBJECTIVE: To evaluate key factors for presenteeism and activity impairment in multinational patients with Behçet's syndrome (BS) and recurrent aphthous stomatitis (RAS). METHODS: In this cross-sectional study, 364 BS patients from Jordan, Brazil, the United Kingdom and Turkey and 143 RAS patients from the United Kingdom and Turkey were included. The Work Productivity Activity Impairment (WPAI) scale was used for presenteeism and activity impairment. Mediation analyses were performed to evaluate both direct and indirect causal effects. RESULTS: Presenteeism score was higher in active patients with genital ulcers and eye involvement as well as patients with comorbidities and current smokers than the others in BS (P < 0.05). In RAS, presenteeism score was elevated by oral ulcer activity in the direct path (P = 0.0073) and long disease duration as a mediator in the indirect path (P = 0.0191). Patients with active joint involvement had poor scores in absenteeism, presenteeism, overall impairment and activity impairment compared with those of inactive patients (P < 0.05). Using mediation analysis, the activity impairment score was directly mediated by joint activity (P = 0.0001) and indirectly mediated through oral ulcer-related pain in BS (P = 0.0309). CONCLUSION: In BS, presenteeism was associated with disease activity, presence of comorbidities and being a current smoker, whereas in RAS, presenteeism was associated with oral ulcer activity and increased length of the disease. Moreover, activity impairment was adversely affected by joint activity and oral ulcer related pain in BS. Patients need to be empowered by using appropriate treatment strategies in their working environment and daily life.

Increased modifiable cardiovascular risk factors in patients with Takayasu arteritis: a multicenter cross-sectional study.

BACKGROUND: Modifiable cardiovascular risk factors (MCRFs), such as those related to aerobic capacity, muscle strength, physical activity, and body composition, have been poorly studied in Takayasu arteritis (TAK). Therefore, the aim of the study was to investigate MCRFs and their relationships with disease status and comorbidities among patients with TAK. METHODS: A multicenter cross-sectional study was conducted between 2019 and 2020, in which 20 adult women with TAK were compared with 16 healthy controls matched by gender, age, and body mass index. The following parameters were analyzed: aerobic capacity by cardiopulmonary test; muscle function by timed-stands test, timed up-and-go test, and handgrip test; muscle strength by one-repetition maximum test and handgrip test; body composition by densitometry; physical activity and metabolic equivalent by IPAQ, quality of life by HAQ and SF-36; disease activity by ITAS2010 and NIH score; and presence of comorbidities. RESULTS: Patients with TAK had a mean age of 41.5 (38.0-46.3) years, disease duration of 16.0 (9.5-20.0) years, and a mean BMI of 27.7±4.5 kg/m2. Three out of the 20 patients with TAK had active disease. Regarding comorbidities, 16 patients had systemic arterial hypertension, 11 had dyslipidemia, and two had type 2 diabetes mellitus, while the control group had no comorbidities. TAK had a significant reduction in aerobic capacity (absolute and relative VO2 peak), muscle strength in the lower limbs, increased visceral adipose tissue, waist-to-hip ratio, reduced walking capacity, decreased weekly metabolic equivalent, and quality of life (P< 0.05) as compared to controls. However, there were no correlations between these MCRFs parameters and disease activity. CONCLUSIONS: TAK show impairment in MCRFs; therefore, strategies able to improve MCRF should be considered in this disease.

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.

Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in 158 patients, representing an overall diagnostic yield of 31.6%. Most of the findings (61.6%) corresponded to autosomal dominant conditions, followed by autosomal recessive (25.6%) and X-linked (12.8%) conditions. These patients harbored 195 variants, among which 43.6% are novel in the literature. The rate of molecular diagnosis was considerably higher for prenatal samples (67%; 4/6), younger children (44%; 24/55), consanguinity (50%; 3/6), gastrointestinal/liver disease (44%; 16/36) and syndromic/malformative conditions (41%; 72/175). For 15.6% of the cohort patients, we observed a direct potential for the redirection of care with targeted therapy, tumor screening, medication adjustment and monitoring for disease-specific complications. Secondary findings were reported in 37 patients (7.4%). Based on cost-effectiveness studies in the literature, we speculate that the reports of secondary findings may influence an increase of 123.2 years in the life expectancy for our cohort, or 0.246 years/cohort patient. ES is a powerful method to identify the molecular bases of monogenic disorders and redirect clinical care.

Epidemiologic Features of Systemic Vasculitides in the Southeast Region of Brazil: Hospital-Based Survey.

BACKGROUND/OBJECTIVE: The epidemiology of vasculitis is variable in different geographic areas, and this issue has not been approached in Brazil yet. The objective of this study was to assess the frequency of vasculitis in specialized centers in Brazil. METHODS: This cross-sectional study was performed in 9 vasculitis outpatient clinics from 6 different states mainly from the Southeast and the Northeast regions of Brazil between 2015 and 2017. Diagnosis and/or classification criteria for Behçet disease (BD), Takayasu arteritis (TA), giant cell arteritis (GCA), polyarteritis nodosa (PAN), granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA), and cryoglobulinemic vasculitis (CryoVas) were used to include patients with at least 6 months of follow-up in this hospital-based survey. RESULTS: A total of 1233 patients with systemic vasculitis were included from the Southeast region. Behçet disease was the most frequent vasculitis (35.0%) followed by TA (26.4%), GPA (16.2%), PAN (5.8%), GCA (5.8%), EGPA (4.3%), MPA (3.4%), and CryoVas (3.0%). Up to 7.8% of vasculitis patients had a juvenile onset, and the frequency of vasculitides found in children and adolescents was as follows: TA (52.6%), BD (24.7%), GPA (12.4%), and PAN (10.3%). No cases of EGPA, MPA, and CryoVas were diagnosed before the age of 18 years. As a comparator, 103 vasculitis patients were included in the Northeast of Brazil where TA was found in 36.9% and BD in 31.1% of vasculitis cases. No GCA cases were found in the Northeast part of Brazil. CONCLUSIONS: Similar to the epidemiology of vasculitis in Asia, BD and TA are the most frequent vasculitis in Southeastern Brazilian referral centers.